المؤلفون: Andrew A. Dwyer, Cheng Xu, Federico Santoni, Samuel A. Malone, Gaetan Ternier, Nicolas J Niederländer, Taneli Raivio, Sara Santini, Daniele Conte, Johanna Tommiska, Filippo Casoni, Kristiina Pulli, Daniele Cassatella, Andrea Messina, Nelly Pitteloud, Johanna Känsäkoski, Giorgio R. Merlo, Yoav Gothilf, Kirsi Vaaralahti, Yisrael Sidis, James S. Acierno, Paolo Giacobini

المساهمون: Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, Jame, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly, STEMM - Stem Cells and Metabolism Research Program, Raivio Group, Research Programs Unit, Faculty of Medicine, University of Helsinki, Department of Physiology, University Management, Medicum, HUS Children and Adolescents, Children's Hospital

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Kallmann syndrome, PROTEIN, Cohort Studies, Mice, 0302 clinical medicine, Neurotrophic factors, Cell Movement, Missense mutation, Genetics (clinical), Zebrafish, GnRH Neuron, Mice, Knockout, Neurons, 1184 Genetics, developmental biology, physiology, Pedigree, INSIGHTS, medicine.anatomical_structure, OLFACTORY SENSORY NEURONS, Female, Congenital Hypogonadotropic Hypogonadism, HORMONE NEURONS, Neural development, hormones, hormone substitutes, and hormone antagonists, medicine.medical_specialty, endocrine system, Heterozygote, Adolescent, MIGRATION, Biology, Article, 03 medical and health sciences, Internal medicine, KALLMANN-SYNDROME, Genetics, medicine, Animals, Humans, Nerve Growth Factors, MUTATIONS, Hypogonadism, medicine.disease, GENE, Olfactory bulb, DELETIONS, 030104 developmental biology, Endocrinology, CELLS, Mutation, Neuron, 3111 Biomedicine, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389f39ff315ce6f9494670ffba8a9ff0Test

المؤلفون: Samuel Andrew Malone, Georgios E Papadakis, Andrea Messina, Nour El Houda Mimouni, Sara Trova, Monica Imbernon, Cecile Allet, Irene Cimino, James Acierno, Daniele Cassatella, Cheng Xu, Richard Quinton, Gabor Szinnai, Pascal Pigny, Lur Alonso-Cotchico, Laura Masgrau, Jean-Didier Maréchal, Vincent Prevot, Nelly Pitteloud, Paolo Giacobini

المصدر: eLife, vol. 8
eLife
eLife, Vol 8 (2019)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

مصطلحات موضوعية: Luteinizing hormone, Anti-Mullerian Hormone, Male, cell migration, Mouse, Adolescent, Adult, Amino Acid Sequence, Animals, Anti-Mullerian Hormone/genetics, Anti-Mullerian Hormone/metabolism, Axons/metabolism, Bone Morphogenetic Protein Receptors, Type I/metabolism, COS Cells, Cell Movement, Chlorocebus aethiops, Female, Fertility, Fetus/metabolism, Gonadotropin-Releasing Hormone/metabolism, Heterozygote, Humans, Hypogonadism/metabolism, Loss of Function Mutation, Luteinizing Hormone/metabolism, Mice, Inbred C57BL, Neurons/metabolism, Olfactory Bulb/metabolism, Pedigree, Receptors, Transforming Growth Factor beta/deficiency, Receptors, Transforming Growth Factor beta/genetics, Receptors, Transforming Growth Factor beta/metabolism, Signal Transduction, Young Adult, AMH, GnRH, Kallmann's syndrome, developmental biology, genetics, genomics, human, mouse, reproduction, Signal transduction, Gonadotropin-Releasing Hormone, Olfactory bulb, COS cells, Biology (General), Bone morphogenetic protein receptors, type I, Neurons, Gonadotropin-releasing hormone, Olfactory Bulb, Medicine, hormones, hormone substitutes, and hormone antagonists, Research Article, Human, endocrine system, QH301-705.5, Science, Anti-mullerian hormone, Amino acid sequence, Cell movement, Fetus, Bone Morphogenetic Protein Receptors, Type I, Hypogonadism, Receptors, transforming growth factor beta, Genetics and Genomics, Luteinizing Hormone, Axons, Young adult, Loss of function mutation, Receptors, Transforming Growth Factor beta, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b577cf036565ce2c10134dcbc44f42d0Test
https://serval.unil.ch/resource/serval:BIB_8F3CDBBED609.P001/REF.pdfTest

المؤلفون: Attila Nemeth, Christian De Geyter, Irene Halperin, Nicolas J Niederländer, Laura Marino, Cheng Xu, Nelly Pitteloud, Richard Quinton, Lucie Favre, Duarte Pignatelli, Georgios Papadakis, Daniele Cassatella, Andrew A. Dwyer, Katrin Feller, Almer M. van der Sloot, Philippe Maeder, Christa E. Flück, Deborah Bartholdi, Sandra Pekic Djurdjevic, James S Acierno, Michael Hauschild

المصدر: Genetics in medicine, vol. 20, no. 8, pp. 872-881

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Heterozygote, medicine.medical_specialty, Kallmann syndrome, Disease, 030105 genetics & heredity, CHARGE Syndrome/diagnosis, CHARGE Syndrome/genetics, DNA Helicases/genetics, DNA Helicases/metabolism, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Family, Female, Genetic Association Studies, Genetic Variation/genetics, Humans, Hypogonadism/genetics, Mutation, Pedigree, Phenotype, Sequence Analysis, DNA, CHARGE syndrome, chromodomain helicase DNA binding protein 7, congenital hypogonadotropic hypogonadism, 03 medical and health sciences, Internal medicine, medicine, 610 Medicine & health, Genetics (clinical), Exome sequencing, Genetics, business.industry, Hypogonadism, DNA Helicases, Genetic Variation, Heterozygote advantage, medicine.disease, DNA-Binding Proteins, 030104 developmental biology, Endocrinology, Medical genetics, Congenital Hypogonadotropic Hypogonadism, CHARGE Syndrome, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1fe06385ffabe5f7a70f895c46f4662Test

المؤلفون: Marc Jeanpierre, Jacques Young, Ana Paula Abreu, Magdalena Avbelj Stefanija, Ravikumar Balasubramanian, Svetlana Ten, Nelly Pitteloud, Albert Schinzel, Lacey Plummer, Margaret G. Au, Radhika Purushothaman, Ana Claudia Latronico, Andrew A. Dwyer, Elka Jacobson-Dickman, Gerasimos P. Sykiotis, Jose C. Florez, Richard Quinton, Michel Pugeat, Simon H. S. Pearce, James F. Gusella, Catherine Dodé, Tim Cheetham, William F. Crowley

المساهمون: University of Zurich, Pitteloud, Nelly

المصدر: Human Molecular Genetics, vol. 21, no. 19, pp. 4314-4324

مصطلحات موضوعية: Male, 2716 Genetics (clinical), Receptors, Peptide, 10039 Institute of Medical Genetics, Population, Mutation, Missense, 610 Medicine & health, Locus (genetics), Gonadotropin-releasing hormone, Biology, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Evolution, Molecular, Gonadotropin-Releasing Hormone, 1311 Genetics, 1312 Molecular Biology, Genetics, Humans, Allele, education, Molecular Biology, Genetics (clinical), education.field_of_study, Reproduction, Racial Groups, Haplotype, Articles, General Medicine, Penetrance, Founder Effect, Pedigree, Haplotypes, 570 Life sciences, biology, Female, Allelic heterogeneity, Founder effect

وصف الملف: Avbeli_M_et_al,_An_ancient_founder.pdf - application/pdf; Avbeli.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea752603930973e97e52b1d3e031a14Test
http://doc.rero.ch/record/295559/files/dds264.pdfTest

المؤلفون: Filippo Casoni, Paolo Giacobini, Päivi Lahermo, Eeva-Marja Sankila, Johanna Känsäkoski, Marita Lipsanen-Nyman, Emily J Lodge, Riikka Keski-Filppula, Kari Kaunisto, Xiaonan Liu, Jørgen K. Kanters, Kristiina Pulli, Tal Buki, Mitja Lääperi, Johanna Tommiska, Riitta Veijola, Mari A. Kaunisto, Joel A. Hirsch, Lei Yuan, Sirpa Kivirikko, Tapani Ebeling, Patrice Mollard, Franziska Phan-Hug, Lasse Skibsbye, Sanna Vuoristo, Kirsi Vaaralahti, Taneli Raivio, Cynthia L. Andoniadou, Manuel Tena-Sempere, Thomas Jespersen, Nelly Pitteloud, Chuyi Tang, Rainer Fagerholm, Leena Valanne, Markku Varjosalo

المساهمون: Department of Physiology, Medicum, Clinicum, Children's Hospital, University of Helsinki, HUS Children and Adolescents, Raivio Group, Institute of Biotechnology, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Department of Ophthalmology and Otorhinolaryngology, Silmäklinikka, HUS Head and Neck Center, Helsinki University Hospital Area, Lastentautien yksikkö, Molecular Systems Biology, Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J, Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jørgen K, Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L, Hirsch, Joel A, Varjosalo, Markku, Jespersen, Thoma, Raivio, Taneli

المصدر: Nature Communications
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-zTest
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, endocrine system diseases, General Physics and Astronomy, VARIANTS, Mice, Missense mutation, Protein Interaction Maps, CALMODULIN, lcsh:Science, Child, Multidisciplinary, Human Growth Hormone, KCNE2, Middle Aged, Recombinant Proteins, Pedigree, 3. Good health, Child, Preschool, K+ CHANNEL, KCNQ1 Potassium Channel, Female, Maternal Inheritance, medicine.symptom, POTASSIUM CHANNELS, STEM-CELLS, Adult, medicine.medical_specialty, Adolescent, Somatotropic cell, Science, Long QT syndrome, Mutation, Missense, LONG-QT SYNDROME, Adrenocorticotropic hormone, Biology, Short stature, Article, General Biochemistry, Genetics and Molecular Biology, Growth hormone deficiency, Young Adult, 03 medical and health sciences, Adrenocorticotropic Hormone, Genetic linkage, Internal medicine, medicine, Animals, Humans, Alleles, Fibromatosis, Gingival, COMPLEX, urogenital system, Arrhythmias, Cardiac, General Chemistry, medicine.disease, GENE, 030104 developmental biology, Endocrinology, Amino Acid Substitution, ATRIAL-FIBRILLATION, SUBUNIT, biology.protein, lcsh:Q, 3111 Biomedicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f65b757cd3eec6b9407f896b92ee41Test
http://urn.fi/urn:nbn:fi-fe2019081223873Test

المؤلفون: Philippe Rondard, Oualid Sbai, Marija Pfeifer, Carles Gaston-Massuet, Yasufumi Shigeyoshi, Mehul T. Dattani, Louise C. Gregory, Tony Hulse, Mark J. McCabe, Nelly Pitteloud, Koh-hei Masumoto, Kyriaki S. Alatzoglou, Mamoru Nagano, Charles R. Buchanan, Vaitsa Tziaferi, Juan Pedro Martinez-Barbera

المصدر: The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypopituitarism, Biochemistry, Receptors, G-Protein-Coupled, Cohort Studies, Mice, 0302 clinical medicine, Endocrinology, Septo-Optic Dysplasia, Child, Mice, Knockout, 0303 health sciences, JCEM Online: Advances in Genetics, Homozygote, Pedigree, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Heterozygote, Hypothalamo-Hypophyseal System, medicine.medical_specialty, Genotype, Receptors, Peptide, Anosmia, Context (language use), Biology, Gastrointestinal Hormones, 03 medical and health sciences, Hypogonadotropic hypogonadism, Internal medicine, medicine, Animals, Humans, Genetic Testing, 030304 developmental biology, Neuropeptides, Biochemistry (medical), Infant, Newborn, Infant, Heterozygote advantage, Septo-optic dysplasia, Kallmann Syndrome, medicine.disease, HEK293 Cells, Dysplasia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9f4898d10fd7444d11434a3c086140Test
https://doi.org/10.1210/jc.2012-3067Test

المؤلفون: Michel Polak, Carine Villanueva, Lacey Plummer, Franziska Phan-Hug, Michael Hauschild, Juliane Léger, Cheng Xu, Yisrael Sidis, Nelly Pitteloud, Taneli Raivio, Hervé Lefebvre, Elka Jacobson-Dickman, Jean-Claude Carel, Moosa Mohammadi, Dov Tiosano, Sylvie Manouvrier, Gerasimos P. Sykiotis, Pierre Bouloux, Jean-Pierre Rey, Valérie Drouin-Garraud, Youli Hu, Andrew A. Dwyer, Yang Liu, Andrew Beenken, Nicolas de Roux, Johanna Tommiska, Marion Gérard

المصدر: Genetics In Medicine : Official Journal of the American College of Medical Genetics, vol. 17, no. 8, pp. 651-659
Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Kallmann syndrome, MAP Kinase Signaling System, Population, Molecular Sequence Data, Limb Deformities, Congenital, Biology, medicine.disease_cause, Article, congenital hypogonadotropic hypogonadism, 03 medical and health sciences, Internal medicine, medicine, Animals, Humans, Amino Acid Sequence, Receptor, Fibroblast Growth Factor, Type 1, Phosphorylation, education, Genetics (clinical), Conserved Sequence, Genetic Association Studies, 030304 developmental biology, Genetic testing, Adaptor Proteins, Signal Transducing, 0303 health sciences, education.field_of_study, Mutation, medicine.diagnostic_test, fibroblast growth factor receptor 1, Fibroblast growth factor receptor 1, FGF receptor substrate 2α, Hypogonadism, 030305 genetics & heredity, Membrane Proteins, Micropenis, medicine.disease, 3. Good health, Pedigree, Endocrinology, split hand/foot malformation, Female, Congenital Hypogonadotropic Hypogonadism, Adaptor Proteins, Signal Transducing/metabolism, Hypogonadism/congenital, Hypogonadism/genetics, Limb Deformities, Congenital/genetics, Limb Deformities, Congenital/metabolism, Membrane Proteins/metabolism, Receptor, Fibroblast Growth Factor, Type 1/genetics, Receptor, Fibroblast Growth Factor, Type 1/metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd2cce1ba19eb4ef4285006a764d41aTest
https://serval.unil.ch/resource/serval:BIB_DD27A8DA5823.P001/REF.pdfTest

المؤلفون: Nelly Pitteloud, Hiroko Habuchi, Stan Van Uum, Virginia A. Hughes, Lacey Plummer, Kimberly Keefe, Guy Van Vliet, Gerasimos P. Sykiotis, Janet E. Hall, William F. Crowley, Stephanie B. Seminara, Xuan Hoang, Hannes E. Bülow, Koji Kimata, Janne Tornberg, Richard Quinton

المصدر: Proceedings of the National Academy of Sciences. 108:11524-11529

مصطلحات موضوعية: Adult, Male, Models, Molecular, medicine.medical_specialty, Kallmann syndrome, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, In Vitro Techniques, Biology, Fibroblast growth factor, Extracellular matrix, chemistry.chemical_compound, Species Specificity, Hypogonadotropic hypogonadism, Internal medicine, medicine, Extracellular, Animals, Humans, Amino Acid Sequence, Receptor, Fibroblast Growth Factor, Type 1, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Child, Genes, Helminth, Extracellular Matrix Proteins, Multidisciplinary, Sequence Homology, Amino Acid, Hypogonadism, Kallmann Syndrome, Heparan sulfate, Biological Sciences, Middle Aged, medicine.disease, biology.organism_classification, Receptors, Fibroblast Growth Factor, Pedigree, Cell biology, Endocrinology, Amino Acid Substitution, chemistry, Mutation, Intercellular Signaling Peptides and Proteins, Female, Sulfotransferases, Hypogonadotrophic hypogonadism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770008e73cceef83d2ea2e04422d2091Test
https://doi.org/10.1073/pnas.1102284108Test

المؤلفون: Nelly Pitteloud, William F. Crowley, Lacey Plummer, Frances J. Hayes, Andrew A. Dwyer

المصدر: The Journal of Clinical Endocrinology & Metabolism. 95:4235-4243

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Biochemistry, Follicle-stimulating hormone, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, Testis, medicine, Humans, Testosterone, Age of Onset, business.industry, Hypogonadism, Biochemistry (medical), Luteinizing Hormone, Middle Aged, medicine.disease, Pedigree, Gonadotropin secretion, Treatment Outcome, Disease Progression, Etiology, Original Article, Follicle Stimulating Hormone, Age of onset, business, Body mass index, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ce8298000956d2146df44bf38b5cfeTest
https://doi.org/10.1210/jc.2010-0245Test

المؤلفون: Qun-Yong Zhou, Chengkang Zhang, Guy VanVliet, Richard Quinton, Lindsay W. Cole, Andrew A. Dwyer, Duarte Pignatelli, Lacey Plummer, Simon Pearce, Céline Huot, Virginia A. Hughes, Phyllis W. Speiser, Nathalie Alos, Akira Takeshita, William F. Crowley, Frances J. Hayes, Nelly Pitteloud, Stephanie B. Seminara, Yisrael Sidis, Taneli Raivio

المصدر: The Journal of Clinical Endocrinology & Metabolism. 93:3551-3559

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Adolescent, Genotype, Receptors, Peptide, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Mutation, Missense, CHO Cells, Gonadotropin-releasing hormone, Biology, Transfection, Models, Biological, Biochemistry, Receptors, G-Protein-Coupled, Gastrointestinal Hormones, Gonadotropin-Releasing Hormone, Genetic Heterogeneity, Aequorin, Cricetulus, Endocrinology, Gene Frequency, Hypogonadotropic hypogonadism, Cricetinae, Internal medicine, Molecular genetics, medicine, Animals, Humans, Missense mutation, Hypogonadism, Neuropeptides, Biochemistry (medical), HEK 293 cells, Prokineticin receptor 2, Kallmann Syndrome, medicine.disease, Prokineticin, Pedigree, nervous system, Female, Original Article, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b75813850cc2145ad5040384ea16009Test
https://doi.org/10.1210/jc.2007-2654Test